Incidental Mutation 'R4184:Gramd1a'
ID |
319864 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gramd1a
|
Ensembl Gene |
ENSMUSG00000001248 |
Gene Name |
GRAM domain containing 1A |
Synonyms |
1300003M23Rik, D7Bwg0611e |
MMRRC Submission |
041020-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.137)
|
Stock # |
R4184 (G1)
|
Quality Score |
161 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
30829552-30855321 bp(-) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
C to A
at 30831940 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001280]
[ENSMUST00000085636]
[ENSMUST00000186634]
|
AlphaFold |
Q8VEF1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000001280
|
SMART Domains |
Protein: ENSMUSP00000001280 Gene: ENSMUSG00000001248
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
39 |
N/A |
INTRINSIC |
low complexity region
|
43 |
57 |
N/A |
INTRINSIC |
GRAM
|
93 |
160 |
2.54e-29 |
SMART |
low complexity region
|
342 |
360 |
N/A |
INTRINSIC |
Pfam:DUF4782
|
372 |
520 |
7.3e-37 |
PFAM |
low complexity region
|
531 |
542 |
N/A |
INTRINSIC |
low complexity region
|
548 |
562 |
N/A |
INTRINSIC |
transmembrane domain
|
606 |
628 |
N/A |
INTRINSIC |
low complexity region
|
707 |
719 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000085636
|
SMART Domains |
Protein: ENSMUSP00000082778 Gene: ENSMUSG00000001248
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
39 |
N/A |
INTRINSIC |
low complexity region
|
43 |
57 |
N/A |
INTRINSIC |
GRAM
|
93 |
160 |
2.54e-29 |
SMART |
low complexity region
|
342 |
360 |
N/A |
INTRINSIC |
Pfam:DUF4782
|
372 |
500 |
1.1e-28 |
PFAM |
low complexity region
|
514 |
528 |
N/A |
INTRINSIC |
transmembrane domain
|
572 |
594 |
N/A |
INTRINSIC |
low complexity region
|
673 |
685 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185589
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185985
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000186634
|
SMART Domains |
Protein: ENSMUSP00000140195 Gene: ENSMUSG00000001248
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
39 |
N/A |
INTRINSIC |
low complexity region
|
43 |
57 |
N/A |
INTRINSIC |
GRAM
|
93 |
160 |
8.9e-32 |
SMART |
low complexity region
|
342 |
360 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188032
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206233
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206432
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000202814
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000220635
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
Validation Efficiency |
95% (55/58) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acte1 |
A |
T |
7: 143,447,858 (GRCm39) |
K234* |
probably null |
Het |
Ccdc178 |
A |
G |
18: 22,157,841 (GRCm39) |
L539P |
probably damaging |
Het |
Cd5 |
T |
A |
19: 10,698,638 (GRCm39) |
N423I |
probably damaging |
Het |
Ceacam20 |
C |
T |
7: 19,710,041 (GRCm39) |
T355I |
probably damaging |
Het |
Chil4 |
G |
A |
3: 106,111,043 (GRCm39) |
P284S |
possibly damaging |
Het |
Cln8 |
T |
C |
8: 14,945,030 (GRCm39) |
F115L |
probably benign |
Het |
Cpne9 |
T |
A |
6: 113,259,418 (GRCm39) |
|
probably benign |
Het |
Cyp4a32 |
C |
T |
4: 115,478,720 (GRCm39) |
T484I |
possibly damaging |
Het |
Des |
C |
G |
1: 75,339,228 (GRCm39) |
A251G |
probably benign |
Het |
Dnah3 |
T |
C |
7: 119,682,516 (GRCm39) |
D270G |
probably damaging |
Het |
Epc1 |
T |
C |
18: 6,453,578 (GRCm39) |
E249G |
possibly damaging |
Het |
Fsbp |
T |
A |
4: 11,584,058 (GRCm39) |
N252K |
probably benign |
Het |
Grsf1 |
G |
A |
5: 88,812,015 (GRCm39) |
P271S |
probably benign |
Het |
Igsf10 |
C |
T |
3: 59,227,152 (GRCm39) |
V2174M |
probably damaging |
Het |
Kcnu1 |
T |
C |
8: 26,352,445 (GRCm39) |
L204P |
probably damaging |
Het |
Kdm7a |
T |
C |
6: 39,125,911 (GRCm39) |
E628G |
probably benign |
Het |
Klhl36 |
T |
C |
8: 120,601,124 (GRCm39) |
M381T |
probably damaging |
Het |
Kpna3 |
A |
T |
14: 61,605,624 (GRCm39) |
Y474N |
probably damaging |
Het |
Lsm8 |
G |
T |
6: 18,849,604 (GRCm39) |
|
probably benign |
Het |
Mapk8 |
T |
C |
14: 33,104,177 (GRCm39) |
D413G |
probably damaging |
Het |
Mbd2 |
T |
A |
18: 70,751,050 (GRCm39) |
C362S |
probably damaging |
Het |
Mex3b |
A |
G |
7: 82,519,238 (GRCm39) |
R518G |
probably benign |
Het |
Mical1 |
T |
C |
10: 41,357,866 (GRCm39) |
|
probably benign |
Het |
Myo18a |
T |
C |
11: 77,748,613 (GRCm39) |
S1996P |
probably damaging |
Het |
Or11g7 |
A |
G |
14: 50,690,827 (GRCm39) |
Y106C |
probably damaging |
Het |
Or11h4b |
C |
G |
14: 50,918,507 (GRCm39) |
E195Q |
probably benign |
Het |
Or1o2 |
T |
G |
17: 37,542,739 (GRCm39) |
H174P |
possibly damaging |
Het |
Otop2 |
T |
A |
11: 115,220,671 (GRCm39) |
C504S |
probably benign |
Het |
Pkhd1 |
T |
A |
1: 20,279,501 (GRCm39) |
H2939L |
probably benign |
Het |
Pkhd1 |
C |
T |
1: 20,633,910 (GRCm39) |
V542M |
probably benign |
Het |
Pkhd1l1 |
C |
T |
15: 44,455,302 (GRCm39) |
T4021I |
probably benign |
Het |
Prr36 |
T |
C |
8: 4,263,409 (GRCm39) |
|
probably benign |
Het |
Ptchd4 |
A |
T |
17: 42,813,650 (GRCm39) |
Y517F |
probably damaging |
Het |
Pth1r |
A |
G |
9: 110,571,300 (GRCm39) |
M1T |
probably null |
Het |
Rdx |
C |
A |
9: 51,978,680 (GRCm39) |
L163M |
probably damaging |
Het |
Reep6 |
A |
G |
10: 80,169,648 (GRCm39) |
Y112C |
probably damaging |
Het |
Rpp21 |
A |
G |
17: 36,568,611 (GRCm39) |
|
probably benign |
Het |
Sacs |
T |
A |
14: 61,451,393 (GRCm39) |
C4480S |
probably damaging |
Het |
Slc15a1 |
G |
A |
14: 121,703,574 (GRCm39) |
T512I |
probably benign |
Het |
Slc22a22 |
A |
T |
15: 57,119,962 (GRCm39) |
C170* |
probably null |
Het |
Slc26a2 |
C |
T |
18: 61,331,904 (GRCm39) |
R509K |
probably benign |
Het |
Slc4a10 |
A |
G |
2: 62,147,786 (GRCm39) |
|
probably benign |
Het |
Stc1 |
A |
T |
14: 69,266,834 (GRCm39) |
|
probably benign |
Het |
Tbc1d32 |
T |
A |
10: 56,100,676 (GRCm39) |
T101S |
probably benign |
Het |
Tsc2 |
T |
C |
17: 24,850,990 (GRCm39) |
T23A |
probably benign |
Het |
Vmn1r52 |
T |
G |
6: 90,156,219 (GRCm39) |
F174L |
probably benign |
Het |
Zfp972 |
G |
A |
2: 177,563,250 (GRCm39) |
Q56* |
probably null |
Het |
Zfp982 |
A |
G |
4: 147,597,150 (GRCm39) |
K169R |
probably benign |
Het |
Zfpl1 |
A |
G |
19: 6,131,170 (GRCm39) |
L274P |
probably damaging |
Het |
|
Other mutations in Gramd1a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01315:Gramd1a
|
APN |
7 |
30,841,993 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01627:Gramd1a
|
APN |
7 |
30,839,221 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01684:Gramd1a
|
APN |
7 |
30,838,330 (GRCm39) |
missense |
possibly damaging |
0.67 |
IGL01793:Gramd1a
|
APN |
7 |
30,833,838 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01986:Gramd1a
|
APN |
7 |
30,833,434 (GRCm39) |
missense |
possibly damaging |
0.58 |
IGL02029:Gramd1a
|
APN |
7 |
30,832,249 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02060:Gramd1a
|
APN |
7 |
30,829,996 (GRCm39) |
nonsense |
probably null |
|
IGL02569:Gramd1a
|
APN |
7 |
30,829,932 (GRCm39) |
unclassified |
probably benign |
|
IGL02606:Gramd1a
|
APN |
7 |
30,833,940 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02715:Gramd1a
|
APN |
7 |
30,835,279 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03253:Gramd1a
|
APN |
7 |
30,839,271 (GRCm39) |
nonsense |
probably null |
|
PIT4377001:Gramd1a
|
UTSW |
7 |
30,843,095 (GRCm39) |
missense |
possibly damaging |
0.95 |
PIT4618001:Gramd1a
|
UTSW |
7 |
30,832,021 (GRCm39) |
missense |
probably benign |
0.00 |
R0179:Gramd1a
|
UTSW |
7 |
30,841,843 (GRCm39) |
missense |
probably damaging |
1.00 |
R0329:Gramd1a
|
UTSW |
7 |
30,837,679 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0330:Gramd1a
|
UTSW |
7 |
30,837,679 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0628:Gramd1a
|
UTSW |
7 |
30,842,049 (GRCm39) |
missense |
probably damaging |
1.00 |
R0834:Gramd1a
|
UTSW |
7 |
30,837,589 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1421:Gramd1a
|
UTSW |
7 |
30,842,291 (GRCm39) |
missense |
probably damaging |
0.98 |
R1430:Gramd1a
|
UTSW |
7 |
30,832,211 (GRCm39) |
missense |
probably damaging |
0.97 |
R1682:Gramd1a
|
UTSW |
7 |
30,842,325 (GRCm39) |
splice site |
probably null |
|
R1703:Gramd1a
|
UTSW |
7 |
30,838,959 (GRCm39) |
missense |
possibly damaging |
0.96 |
R1822:Gramd1a
|
UTSW |
7 |
30,841,998 (GRCm39) |
missense |
probably damaging |
1.00 |
R2308:Gramd1a
|
UTSW |
7 |
30,839,215 (GRCm39) |
missense |
probably damaging |
0.97 |
R3861:Gramd1a
|
UTSW |
7 |
30,835,365 (GRCm39) |
missense |
possibly damaging |
0.90 |
R4908:Gramd1a
|
UTSW |
7 |
30,838,292 (GRCm39) |
missense |
probably benign |
0.27 |
R4978:Gramd1a
|
UTSW |
7 |
30,832,213 (GRCm39) |
missense |
possibly damaging |
0.74 |
R5723:Gramd1a
|
UTSW |
7 |
30,833,908 (GRCm39) |
missense |
probably damaging |
1.00 |
R5927:Gramd1a
|
UTSW |
7 |
30,839,246 (GRCm39) |
missense |
probably benign |
0.33 |
R6466:Gramd1a
|
UTSW |
7 |
30,843,221 (GRCm39) |
missense |
probably benign |
|
R6838:Gramd1a
|
UTSW |
7 |
30,833,929 (GRCm39) |
missense |
probably benign |
0.30 |
R7034:Gramd1a
|
UTSW |
7 |
30,832,181 (GRCm39) |
critical splice donor site |
probably null |
|
R7036:Gramd1a
|
UTSW |
7 |
30,832,181 (GRCm39) |
critical splice donor site |
probably null |
|
R7867:Gramd1a
|
UTSW |
7 |
30,842,992 (GRCm39) |
missense |
probably damaging |
1.00 |
R8729:Gramd1a
|
UTSW |
7 |
30,843,248 (GRCm39) |
missense |
possibly damaging |
0.53 |
R8783:Gramd1a
|
UTSW |
7 |
30,832,220 (GRCm39) |
missense |
possibly damaging |
0.50 |
R9147:Gramd1a
|
UTSW |
7 |
30,837,606 (GRCm39) |
unclassified |
probably benign |
|
R9485:Gramd1a
|
UTSW |
7 |
30,829,963 (GRCm39) |
missense |
unknown |
|
Z1186:Gramd1a
|
UTSW |
7 |
30,843,198 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Predicted Primers |
PCR Primer
(F):5'- AAAGAGGGGATTCTTACTACAGCC -3'
(R):5'- TCAAGCACGTTAAGATGGCC -3'
Sequencing Primer
(F):5'- GGGATTCTTACTACAGCCAAATGG -3'
(R):5'- CACGTTAAGATGGCCAGGGC -3'
|
Posted On |
2015-06-10 |